	FusionGeneSummary
	FusionProtFeature
	FusionGeneSequence
	FusionGenePPI
	RelatedDrugs
	RelatedDiseases

Fusion gene ID: 2601

FusionGeneSummary for ARHGEF9_DIP2A

Fusion gene summary

Fusion gene information	Fusion gene name: ARHGEF9_DIP2A
	Fusion gene ID: 2601
		Hgene	Tgene
	Gene symbol	ARHGEF9	DIP2A
	Gene ID	23229	23181
	Gene name	Cdc42 guanine nucleotide exchange factor 9	disco interacting protein 2 homolog A
	Synonyms	COLLYBISTIN\|EIEE8\|HPEM-2\|PEM-2\|PEM2	C21orf106\|DIP2
	Cytomap	Xq11.1	21q22.3
	Type of gene	protein-coding	protein-coding
	Description	rho guanine nucleotide exchange factor 9Cdc42 guanine nucleotide exchange factor (GEF) 9PEM-2 homologhPEM-2 collybistinrac/Cdc42 guanine nucleotide exchange factor 9	disco-interacting protein 2 homolog ADIP2 disco-interacting protein 2 homolog ADIP2 homolog Adisco-interacting protein 2A
	Modification date	20180519	20180523
	UniProtAcc	O43307	Q14689
	Ensembl transtripts involved in fusion gene	ENST00000253401, ENST00000374878, ENST00000374870, ENST00000437457, ENST00000495564, ENST00000374872, ENST00000433323,	ENST00000400274, ENST00000427143, ENST00000318711, ENST00000417564, ENST00000457905, ENST00000466639, ENST00000435722, ENST00000479654,
Fusion gene scores	* DoF score	3 X 3 X 3=27	5 X 5 X 3=75
	# samples	3	5
	** MAII score	log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0	log2(5/75*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: ARHGEF9 [Title/Abstract] AND DIP2A [Title/Abstract] AND fusion [Title/Abstract]
Functional or gene categories assigned by FusionGDB annotation

* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Tgene	DIP2A	GO:0010629	negative regulation of gene expression	20860622

Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.

Data type	Source	Cancer type	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChiTaRS3.1			BE696194	ARHGEF9	chrX	62860231	-	DIP2A	chr21	47970554	+

* LD: Li Ding group's fusion gene list
RV: Roel Verhaak group's fusion gene list
ChiTaRs fusion database

Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.

ORF	Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
intron-3CDS	ENST00000253401	ENST00000400274	ARHGEF9	chrX	62860231	-	DIP2A	chr21	47970554	+
intron-3CDS	ENST00000253401	ENST00000427143	ARHGEF9	chrX	62860231	-	DIP2A	chr21	47970554	+
intron-3CDS	ENST00000253401	ENST00000318711	ARHGEF9	chrX	62860231	-	DIP2A	chr21	47970554	+
intron-3CDS	ENST00000253401	ENST00000417564	ARHGEF9	chrX	62860231	-	DIP2A	chr21	47970554	+
intron-intron	ENST00000253401	ENST00000457905	ARHGEF9	chrX	62860231	-	DIP2A	chr21	47970554	+
intron-intron	ENST00000253401	ENST00000466639	ARHGEF9	chrX	62860231	-	DIP2A	chr21	47970554	+
intron-intron	ENST00000253401	ENST00000435722	ARHGEF9	chrX	62860231	-	DIP2A	chr21	47970554	+
intron-intron	ENST00000253401	ENST00000479654	ARHGEF9	chrX	62860231	-	DIP2A	chr21	47970554	+
intron-3CDS	ENST00000374878	ENST00000400274	ARHGEF9	chrX	62860231	-	DIP2A	chr21	47970554	+
intron-3CDS	ENST00000374878	ENST00000427143	ARHGEF9	chrX	62860231	-	DIP2A	chr21	47970554	+
intron-3CDS	ENST00000374878	ENST00000318711	ARHGEF9	chrX	62860231	-	DIP2A	chr21	47970554	+
intron-3CDS	ENST00000374878	ENST00000417564	ARHGEF9	chrX	62860231	-	DIP2A	chr21	47970554	+
intron-intron	ENST00000374878	ENST00000457905	ARHGEF9	chrX	62860231	-	DIP2A	chr21	47970554	+
intron-intron	ENST00000374878	ENST00000466639	ARHGEF9	chrX	62860231	-	DIP2A	chr21	47970554	+
intron-intron	ENST00000374878	ENST00000435722	ARHGEF9	chrX	62860231	-	DIP2A	chr21	47970554	+
intron-intron	ENST00000374878	ENST00000479654	ARHGEF9	chrX	62860231	-	DIP2A	chr21	47970554	+
intron-3CDS	ENST00000374870	ENST00000400274	ARHGEF9	chrX	62860231	-	DIP2A	chr21	47970554	+
intron-3CDS	ENST00000374870	ENST00000427143	ARHGEF9	chrX	62860231	-	DIP2A	chr21	47970554	+
intron-3CDS	ENST00000374870	ENST00000318711	ARHGEF9	chrX	62860231	-	DIP2A	chr21	47970554	+
intron-3CDS	ENST00000374870	ENST00000417564	ARHGEF9	chrX	62860231	-	DIP2A	chr21	47970554	+
intron-intron	ENST00000374870	ENST00000457905	ARHGEF9	chrX	62860231	-	DIP2A	chr21	47970554	+
intron-intron	ENST00000374870	ENST00000466639	ARHGEF9	chrX	62860231	-	DIP2A	chr21	47970554	+
intron-intron	ENST00000374870	ENST00000435722	ARHGEF9	chrX	62860231	-	DIP2A	chr21	47970554	+
intron-intron	ENST00000374870	ENST00000479654	ARHGEF9	chrX	62860231	-	DIP2A	chr21	47970554	+
intron-3CDS	ENST00000437457	ENST00000400274	ARHGEF9	chrX	62860231	-	DIP2A	chr21	47970554	+
intron-3CDS	ENST00000437457	ENST00000427143	ARHGEF9	chrX	62860231	-	DIP2A	chr21	47970554	+
intron-3CDS	ENST00000437457	ENST00000318711	ARHGEF9	chrX	62860231	-	DIP2A	chr21	47970554	+
intron-3CDS	ENST00000437457	ENST00000417564	ARHGEF9	chrX	62860231	-	DIP2A	chr21	47970554	+
intron-intron	ENST00000437457	ENST00000457905	ARHGEF9	chrX	62860231	-	DIP2A	chr21	47970554	+
intron-intron	ENST00000437457	ENST00000466639	ARHGEF9	chrX	62860231	-	DIP2A	chr21	47970554	+
intron-intron	ENST00000437457	ENST00000435722	ARHGEF9	chrX	62860231	-	DIP2A	chr21	47970554	+
intron-intron	ENST00000437457	ENST00000479654	ARHGEF9	chrX	62860231	-	DIP2A	chr21	47970554	+
intron-3CDS	ENST00000495564	ENST00000400274	ARHGEF9	chrX	62860231	-	DIP2A	chr21	47970554	+
intron-3CDS	ENST00000495564	ENST00000427143	ARHGEF9	chrX	62860231	-	DIP2A	chr21	47970554	+
intron-3CDS	ENST00000495564	ENST00000318711	ARHGEF9	chrX	62860231	-	DIP2A	chr21	47970554	+
intron-3CDS	ENST00000495564	ENST00000417564	ARHGEF9	chrX	62860231	-	DIP2A	chr21	47970554	+
intron-intron	ENST00000495564	ENST00000457905	ARHGEF9	chrX	62860231	-	DIP2A	chr21	47970554	+
intron-intron	ENST00000495564	ENST00000466639	ARHGEF9	chrX	62860231	-	DIP2A	chr21	47970554	+
intron-intron	ENST00000495564	ENST00000435722	ARHGEF9	chrX	62860231	-	DIP2A	chr21	47970554	+
intron-intron	ENST00000495564	ENST00000479654	ARHGEF9	chrX	62860231	-	DIP2A	chr21	47970554	+
intron-3CDS	ENST00000374872	ENST00000400274	ARHGEF9	chrX	62860231	-	DIP2A	chr21	47970554	+
intron-3CDS	ENST00000374872	ENST00000427143	ARHGEF9	chrX	62860231	-	DIP2A	chr21	47970554	+
intron-3CDS	ENST00000374872	ENST00000318711	ARHGEF9	chrX	62860231	-	DIP2A	chr21	47970554	+
intron-3CDS	ENST00000374872	ENST00000417564	ARHGEF9	chrX	62860231	-	DIP2A	chr21	47970554	+
intron-intron	ENST00000374872	ENST00000457905	ARHGEF9	chrX	62860231	-	DIP2A	chr21	47970554	+
intron-intron	ENST00000374872	ENST00000466639	ARHGEF9	chrX	62860231	-	DIP2A	chr21	47970554	+
intron-intron	ENST00000374872	ENST00000435722	ARHGEF9	chrX	62860231	-	DIP2A	chr21	47970554	+
intron-intron	ENST00000374872	ENST00000479654	ARHGEF9	chrX	62860231	-	DIP2A	chr21	47970554	+
intron-3CDS	ENST00000433323	ENST00000400274	ARHGEF9	chrX	62860231	-	DIP2A	chr21	47970554	+
intron-3CDS	ENST00000433323	ENST00000427143	ARHGEF9	chrX	62860231	-	DIP2A	chr21	47970554	+
intron-3CDS	ENST00000433323	ENST00000318711	ARHGEF9	chrX	62860231	-	DIP2A	chr21	47970554	+
intron-3CDS	ENST00000433323	ENST00000417564	ARHGEF9	chrX	62860231	-	DIP2A	chr21	47970554	+
intron-intron	ENST00000433323	ENST00000457905	ARHGEF9	chrX	62860231	-	DIP2A	chr21	47970554	+
intron-intron	ENST00000433323	ENST00000466639	ARHGEF9	chrX	62860231	-	DIP2A	chr21	47970554	+
intron-intron	ENST00000433323	ENST00000435722	ARHGEF9	chrX	62860231	-	DIP2A	chr21	47970554	+
intron-intron	ENST00000433323	ENST00000479654	ARHGEF9	chrX	62860231	-	DIP2A	chr21	47970554	+

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FusionProtFeatures for ARHGEF9_DIP2A

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
ARHGEF9 O43307	DIP2A Q14689
Acts as guanine nucleotide exchange factor (GEF) forCDC42. Promotes formation of GPHN clusters.{ECO:0000269\|PubMed:10559246}.	May provide positional cues for axon pathfinding andpatterning in the central nervous system.

Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at
download page
.

* Minus value of BPloci means that the break pointn is located before the CDS.

- In-frame and retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

- In-frame and not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

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FusionGeneSequence for ARHGEF9_DIP2A

For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for ARHGEF9_DIP2A

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page
.

Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)

Hgene

Hgene's interactors

Tgene

Tgene's interactors

- Retained PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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RelatedDrugs for ARHGEF9_DIP2A

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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RelatedDiseases for ARHGEF9_DIP2A

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Hgene	ARHGEF9	C1845102	Hyperekplexia and Epilepsy	2	CTD_human;ORPHANET;UNIPROT
Hgene	ARHGEF9	C1136249	Mental Retardation, X-Linked	1	CTD_human

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Fusion gene ID: 2601

FusionGeneSummary for ARHGEF9_DIP2A

FusionProtFeatures for ARHGEF9_DIP2A

FusionGeneSequence for ARHGEF9_DIP2A

FusionGenePPI for ARHGEF9_DIP2A

RelatedDrugs for ARHGEF9_DIP2A

RelatedDiseases for ARHGEF9_DIP2A